Incidental Mutation 'R5826:Noxa1'
| ID |
450157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Noxa1
|
| Ensembl Gene |
ENSMUSG00000036805 |
| Gene Name |
NADPH oxidase activator 1 |
| Synonyms |
|
| MMRRC Submission |
043217-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5826 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
24975679-24985161 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24976253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 345
(Q345L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044018]
[ENSMUST00000044078]
[ENSMUST00000114373]
[ENSMUST00000114376]
[ENSMUST00000114380]
[ENSMUST00000150625]
|
| AlphaFold |
Q8CJ00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044018
AA Change: Q345L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037423
Gene: ENSMUSG00000036805
AA Change: Q345L
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
38 |
71 |
8.17e-1 |
SMART |
|
TPR
|
72 |
105 |
1.47e-2 |
SMART |
|
TPR
|
122 |
155 |
1.97e1 |
SMART |
|
low complexity region
|
166 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
|
PB1
|
285 |
365 |
6.76e-9 |
SMART |
|
SH3
|
372 |
427 |
1.81e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044078
|
| SMART Domains |
Protein: ENSMUSP00000040628
Gene: ENSMUSG00000036813
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDA1_CD39
|
34 |
463 |
1.8e-106 |
PFAM |
|
transmembrane domain
|
472 |
494 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114373
AA Change: Q337L
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110014
Gene: ENSMUSG00000036805
AA Change: Q337L
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
38 |
71 |
8.17e-1 |
SMART |
|
TPR
|
72 |
105 |
1.47e-2 |
SMART |
|
TPR
|
122 |
155 |
1.97e1 |
SMART |
|
low complexity region
|
166 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
266 |
N/A |
INTRINSIC |
|
PB1
|
277 |
357 |
6.76e-9 |
SMART |
|
SH3
|
364 |
419 |
1.81e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114376
|
| SMART Domains |
Protein: ENSMUSP00000110017
Gene: ENSMUSG00000036813
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDA1_CD39
|
34 |
355 |
1.4e-77 |
PFAM |
|
Pfam:GDA1_CD39
|
347 |
423 |
2.1e-11 |
PFAM |
|
transmembrane domain
|
432 |
454 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114380
|
| SMART Domains |
Protein: ENSMUSP00000110022
Gene: ENSMUSG00000036813
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDA1_CD39
|
34 |
465 |
1.1e-100 |
PFAM |
|
transmembrane domain
|
472 |
494 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149470
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150625
|
| SMART Domains |
Protein: ENSMUSP00000142316
Gene: ENSMUSG00000036813
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDA1_CD39
|
1 |
41 |
8.4e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a targeted allele removing exons 3 through 6 exhibit no overt phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,632,056 (GRCm39) |
H4992R |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Akr1c20 |
T |
C |
13: 4,560,222 (GRCm39) |
E152G |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,788,189 (GRCm39) |
D877V |
probably damaging |
Het |
| Asb18 |
A |
C |
1: 89,942,260 (GRCm39) |
S14A |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,618,724 (GRCm39) |
Y147* |
probably null |
Het |
| Cbfa2t2 |
A |
G |
2: 154,342,375 (GRCm39) |
I30M |
possibly damaging |
Het |
| Cpd |
A |
T |
11: 76,675,242 (GRCm39) |
L1293* |
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,412,992 (GRCm39) |
|
probably null |
Het |
| Cst9 |
G |
A |
2: 148,680,393 (GRCm39) |
V120I |
possibly damaging |
Het |
| Ddah2 |
A |
G |
17: 35,279,664 (GRCm39) |
D128G |
probably damaging |
Het |
| Defb11 |
T |
C |
8: 22,395,510 (GRCm39) |
I56V |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,925,193 (GRCm39) |
L3880Q |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,389,623 (GRCm39) |
T508A |
possibly damaging |
Het |
| Ephb2 |
T |
A |
4: 136,388,048 (GRCm39) |
H685L |
probably damaging |
Het |
| Glrb |
T |
C |
3: 80,752,449 (GRCm39) |
Y387C |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,126,859 (GRCm39) |
S205P |
possibly damaging |
Het |
| Has2 |
T |
A |
15: 56,531,498 (GRCm39) |
I406F |
probably damaging |
Het |
| Hcrtr2 |
A |
C |
9: 76,230,569 (GRCm39) |
V73G |
probably benign |
Het |
| Hsd17b4 |
A |
T |
18: 50,316,239 (GRCm39) |
Q622L |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,072,022 (GRCm39) |
M607K |
probably benign |
Het |
| Nol6 |
T |
A |
4: 41,122,158 (GRCm39) |
D184V |
probably benign |
Het |
| Nudt6 |
T |
C |
3: 37,473,617 (GRCm39) |
T35A |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,284,288 (GRCm39) |
R838I |
possibly damaging |
Het |
| Plcg2 |
T |
C |
8: 118,337,583 (GRCm39) |
V985A |
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,635,335 (GRCm39) |
|
probably null |
Het |
| Prkdc |
G |
A |
16: 15,551,962 (GRCm39) |
R2056H |
probably benign |
Het |
| Ptpn4 |
A |
T |
1: 119,612,246 (GRCm39) |
I49N |
probably benign |
Het |
| Ralgapa1 |
T |
G |
12: 55,723,898 (GRCm39) |
S1543R |
probably damaging |
Het |
| Rnf135 |
A |
T |
11: 80,089,912 (GRCm39) |
N416I |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,350,399 (GRCm39) |
L825P |
probably damaging |
Het |
| Septin11 |
A |
T |
5: 93,287,309 (GRCm39) |
N8I |
possibly damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,250,876 (GRCm39) |
I456V |
probably benign |
Het |
| Slc16a3 |
A |
G |
11: 120,847,756 (GRCm39) |
T315A |
probably benign |
Het |
| Sun1 |
T |
G |
5: 139,231,171 (GRCm39) |
F657C |
probably damaging |
Het |
| Tmco3 |
T |
C |
8: 13,360,314 (GRCm39) |
S34P |
probably damaging |
Het |
| Tnrc18 |
G |
A |
5: 142,759,502 (GRCm39) |
P778L |
unknown |
Het |
| Ubxn4 |
A |
C |
1: 128,194,058 (GRCm39) |
K284T |
possibly damaging |
Het |
| Usp37 |
A |
T |
1: 74,509,785 (GRCm39) |
N461K |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,499,133 (GRCm39) |
F259L |
probably benign |
Het |
| Vmn2r73 |
T |
C |
7: 85,524,956 (GRCm39) |
D64G |
possibly damaging |
Het |
|
| Other mutations in Noxa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Noxa1
|
APN |
2 |
24,984,914 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01316:Noxa1
|
APN |
2 |
24,976,023 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02274:Noxa1
|
APN |
2 |
24,975,767 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02528:Noxa1
|
APN |
2 |
24,980,645 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02952:Noxa1
|
APN |
2 |
24,981,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03286:Noxa1
|
APN |
2 |
24,975,732 (GRCm39) |
splice site |
probably null |
|
|
IGL03330:Noxa1
|
APN |
2 |
24,980,526 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0322:Noxa1
|
UTSW |
2 |
24,982,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0357:Noxa1
|
UTSW |
2 |
24,975,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0636:Noxa1
|
UTSW |
2 |
24,976,106 (GRCm39) |
unclassified |
probably benign |
|
|
R0909:Noxa1
|
UTSW |
2 |
24,981,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Noxa1
|
UTSW |
2 |
24,982,558 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1702:Noxa1
|
UTSW |
2 |
24,982,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1958:Noxa1
|
UTSW |
2 |
24,980,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4618:Noxa1
|
UTSW |
2 |
24,981,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Noxa1
|
UTSW |
2 |
24,976,246 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5606:Noxa1
|
UTSW |
2 |
24,976,292 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5619:Noxa1
|
UTSW |
2 |
24,975,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6076:Noxa1
|
UTSW |
2 |
24,975,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6920:Noxa1
|
UTSW |
2 |
24,981,844 (GRCm39) |
splice site |
probably null |
|
|
R8112:Noxa1
|
UTSW |
2 |
24,982,553 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8794:Noxa1
|
UTSW |
2 |
24,984,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9783:Noxa1
|
UTSW |
2 |
24,985,053 (GRCm39) |
start gained |
probably benign |
|
|
X0021:Noxa1
|
UTSW |
2 |
24,980,226 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0025:Noxa1
|
UTSW |
2 |
24,980,503 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Noxa1
|
UTSW |
2 |
24,980,285 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTACTTGGTAGAGGACTGGCC -3'
(R):5'- CTCCCTTAGCTCTAGGCCTAAG -3'
Sequencing Primer
(F):5'- TTCCAACTGTCTGGGATG -3'
(R):5'- TAGCTCTAGGCCTAAGAATCTAGGC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation